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Gene Review

ZNF384  -  zinc finger protein 384

Homo sapiens

Synonyms: CAG repeat protein 1, CAGH1, CAGH1A, CAS-interacting zinc finger protein, CIZ, ...
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Disease relevance of ZNF384


Psychiatry related information on ZNF384


High impact information on ZNF384


Chemical compound and disease context of ZNF384


Biological context of ZNF384


Anatomical context of ZNF384

  • Cellular transformation of NIH3T3 fibroblasts by CIZ/NMP4 fusions [21].
  • CONCLUSION: These data suggest that the binding of p130(cas) and NMP-4 to the AGRE site regulates MMP-13 expression and may trigger the change in human chondrocytes from the L-OA state to the H-OA state [23].
  • We previously indicated that nuclear matrix proteins (NP/NMP4) interact with the rat type I collagen alpha1(I) polypeptide chain (COL1A1) promoter at two poly(dT) sequences (sites A and B) and bend the DNA [22].
  • We conclude that NP/NMP4/CIZ is a novel family of nuclear matrix transcription factors that may be part of a general mechanical pathway that couples cell structure and function during extracellular matrix remodeling [22].
  • We observed NP/NMP4/CIZ expression in osteocytes, osteoblasts, and chondrocytes in rat bone [22].

Associations of ZNF384 with chemical compounds


Physical interactions of ZNF384

  • Furthermore, MSH2 bound preferentially to looped-out CAG repeat sequences, implicating a strand asymmetry in MSH2 recognition [27].
  • Recently, CAG repeat expansions in the gene encoding TATA-binding protein (TBP) have been found in a new form of SCA, which has been designated SCA17 [28].

Regulatory relationships of ZNF384


Other interactions of ZNF384

  • Given the interaction between human zyxin and p130CAS, these results suggest that zyxin indirectly enables the interaction of ZNF384 with p130CAS which is described in rat [20].
  • Molecular cloning of the translocations t(12;22)(p13;q12) and t(12;17)(p13;q11) in acute leukaemia showed that either EWSR1 or its homologue TAF15 are fused to the transcription factor CIZ [21].
  • Luciferase experiments indeed showed that E2A-CIZ as well as VP16-CIZ transactivates the MMP7 promoter [21].
  • In addition, a new fusion E2A-CIZ was recently cloned as a result of a t(12;19)(p13;p13) in a patient with acute lymphoblastic leukaemia [21].
  • Supershift experiments showed the presence of p130cas and nuclear matrix transcription factor 4 (NMP-4) in the wild-type AGRE/H-OA chondrocyte complex [23].

Analytical, diagnostic and therapeutic context of ZNF384


  1. Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia. Martini, A., La Starza, R., Janssen, H., Bilhou-Nabera, C., Corveleyn, A., Somers, R., Aventin, A., Foà, R., Hagemeijer, A., Mecucci, C., Marynen, P. Cancer Res. (2002) [Pubmed]
  2. Huntington's disease: new paths to pathogenesis. Ross, C.A. Cell (2004) [Pubmed]
  3. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Zhuchenko, O., Bailey, J., Bonnen, P., Ashizawa, T., Stockton, D.W., Amos, C., Dobyns, W.B., Subramony, S.H., Zoghbi, H.Y., Lee, C.C. Nat. Genet. (1997) [Pubmed]
  4. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. Kremer, B., Goldberg, P., Andrew, S.E., Theilmann, J., Telenius, H., Zeisler, J., Squitieri, F., Lin, B., Bassett, A., Almqvist, E. N. Engl. J. Med. (1994) [Pubmed]
  5. Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. Andresen, J.M., Gay??n, J., Cherny, S.S., Brocklebank, D., Alkorta-Aranburu, G., Addis, E.A., Cardon, L.R., Housman, D.E., Wexler, N.S. J. Med. Genet. (2007) [Pubmed]
  6. SCA17 homozygote showing Huntington's disease-like phenotype. Toyoshima, Y., Yamada, M., Onodera, O., Shimohata, M., Inenaga, C., Fujita, N., Morita, M., Tsuji, S., Takahashi, H. Ann. Neurol. (2004) [Pubmed]
  7. Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder. Saleem, Q., Dash, D., Gandhi, C., Kishore, A., Benegal, V., Sherrin, T., Mukherjee, O., Jain, S., Brahmachari, S.K. Mol. Psychiatry (2001) [Pubmed]
  8. Analysis of CAG repeat expansions in restless legs syndrome. Desautels, A., Turecki, G., Montplaisir, J., Brisebois, K., Desautels, A.K., Adam, B., Rouleau, G.A. Sleep. (2003) [Pubmed]
  9. Double-blind crossover trial of trimethoprim-sulfamethoxazole in spinocerebellar ataxia type 3/Machado-Joseph disease. Schulte, T., Mattern, R., Berger, K., Szymanski, S., Klotz, P., Kraus, P.H., Przuntek, H., Schöls, L. Arch. Neurol. (2001) [Pubmed]
  10. Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Chen, H.K., Fernandez-Funez, P., Acevedo, S.F., Lam, Y.C., Kaytor, M.D., Fernandez, M.H., Aitken, A., Skoulakis, E.M., Orr, H.T., Botas, J., Zoghbi, H.Y. Cell (2003) [Pubmed]
  11. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Igarashi, S., Koide, R., Shimohata, T., Yamada, M., Hayashi, Y., Takano, H., Date, H., Oyake, M., Sato, T., Sato, A., Egawa, S., Ikeuchi, T., Tanaka, H., Nakano, R., Tanaka, K., Hozumi, I., Inuzuka, T., Takahashi, H., Tsuji, S. Nat. Genet. (1998) [Pubmed]
  12. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. David, G., Abbas, N., Stevanin, G., Dürr, A., Yvert, G., Cancel, G., Weber, C., Imbert, G., Saudou, F., Antoniou, E., Drabkin, H., Gemmill, R., Giunti, P., Benomar, A., Wood, N., Ruberg, M., Agid, Y., Mandel, J.L., Brice, A. Nat. Genet. (1997) [Pubmed]
  13. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. White, J.K., Auerbach, W., Duyao, M.P., Vonsattel, J.P., Gusella, J.F., Joyner, A.L., MacDonald, M.E. Nat. Genet. (1997) [Pubmed]
  14. Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Ordway, J.M., Tallaksen-Greene, S., Gutekunst, C.A., Bernstein, E.M., Cearley, J.A., Wiener, H.W., Dure, L.S., Lindsey, R., Hersch, S.M., Jope, R.S., Albin, R.L., Detloff, P.J. Cell (1997) [Pubmed]
  15. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Trottier, Y., Devys, D., Imbert, G., Saudou, F., An, I., Lutz, Y., Weber, C., Agid, Y., Hirsch, E.C., Mandel, J.L. Nat. Genet. (1995) [Pubmed]
  16. Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level. Tanaka, F., Reeves, M.F., Ito, Y., Matsumoto, M., Li, M., Miwa, S., Inukai, A., Yamamoto, M., Doyu, M., Yoshida, M., Hashizume, Y., Terao, S., Mitsuma, T., Sobue, G. Am. J. Hum. Genet. (1999) [Pubmed]
  17. Methylation patterns in human androgen receptor gene and clonality analysis. Jang, S.J., Mao, L. Cancer Res. (2000) [Pubmed]
  18. The CAG repeat polymorphism in the AR gene affects high density lipoprotein cholesterol and arterial vasoreactivity. Zitzmann, M., Brune, M., Kornmann, B., Gromoll, J., von Eckardstein, S., von Eckardstein, A., Nieschlag, E. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  19. Partial resistance to malonate-induced striatal cell death in transgenic mouse models of Huntington's disease is dependent on age and CAG repeat length. Hansson, O., Castilho, R.F., Korhonen, L., Lindholm, D., Bates, G.P., Brundin, P. J. Neurochem. (2001) [Pubmed]
  20. Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling? Janssen, H., Marynen, P. Exp. Cell Res. (2006) [Pubmed]
  21. Cellular transformation of NIH3T3 fibroblasts by CIZ/NMP4 fusions. Corveleyn, A., Janssen, H., Martini, A., Somers, R., Cools, J., Marynen, P. J. Cell. Biochem. (2005) [Pubmed]
  22. Cloning and functional analysis of a family of nuclear matrix transcription factors (NP/NMP4) that regulate type I collagen expression in osteoblasts. Thunyakitpisal, P., Alvarez, M., Tokunaga, K., Onyia, J.E., Hock, J., Ohashi, N., Feister, H., Rhodes, S.J., Bidwell, J.P. J. Bone Miner. Res. (2001) [Pubmed]
  23. Identification in human osteoarthritic chondrocytes of proteins binding to the novel regulatory site AGRE in the human matrix metalloprotease 13 proximal promoter. Fan, Z., Tardif, G., Boileau, C., Bidwell, J.P., Geng, C., Hum, D., Watson, A., Pelletier, J.P., Lavigne, M., Martel-Pelletier, J. Arthritis Rheum. (2006) [Pubmed]
  24. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Banfi, S., Servadio, A., Chung, M.Y., Kwiatkowski, T.J., McCall, A.E., Duvick, L.A., Shen, Y., Roth, E.J., Orr, H.T., Zoghbi, H.Y. Nat. Genet. (1994) [Pubmed]
  25. Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat. Rebbeck, T.R., Kantoff, P.W., Krithivas, K., Neuhausen, S., Blackwood, M.A., Godwin, A.K., Daly, M.B., Narod, S.A., Garber, J.E., Lynch, H.T., Weber, B.L., Brown, M. Am. J. Hum. Genet. (1999) [Pubmed]
  26. Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. Onodera, O., Oyake, M., Takano, H., Ikeuchi, T., Igarashi, S., Tsuji, S. Am. J. Hum. Genet. (1995) [Pubmed]
  27. Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Pearson, C.E., Ewel, A., Acharya, S., Fishel, R.A., Sinden, R.R. Hum. Mol. Genet. (1997) [Pubmed]
  28. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Rolfs, A., Koeppen, A.H., Bauer, I., Bauer, P., Buhlmann, S., Topka, H., Schöls, L., Riess, O. Ann. Neurol. (2003) [Pubmed]
  29. A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men. Lund, A., Juvonen, V., Lähdetie, J., Aittomäki, K., Tapanainen, J.S., Savontaus, M.L. Fertil. Steril. (2003) [Pubmed]
  30. Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease. Taanman, J.W., Schapira, A.H. Neurosci. Lett. (2005) [Pubmed]
  31. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. DeStefano, A.L., Cupples, L.A., Maciel, P., Gaspar, C., Radvany, J., Dawson, D.M., Sudarsky, L., Corwin, L., Coutinho, P., MacLeod, P. Am. J. Hum. Genet. (1996) [Pubmed]
  32. Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Goldberg, Y.P., Kalchman, M.A., Metzler, M., Nasir, J., Zeisler, J., Graham, R., Koide, H.B., O'Kusky, J., Sharp, A.H., Ross, C.A., Jirik, F., Hayden, M.R. Hum. Mol. Genet. (1996) [Pubmed]
  33. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Nielsen, J.E., Koefoed, P., Abell, K., Hasholt, L., Eiberg, H., Fenger, K., Niebuhr, E., Sørensen, S.A. Hum. Mol. Genet. (1997) [Pubmed]
  34. Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected]. Lin, B., Nasir, J., MacDonald, H., Hutchinson, G., Graham, R.K., Rommens, J.M., Hayden, M.R. Hum. Mol. Genet. (1994) [Pubmed]
  35. Nucleocytoplasmic transport signals affect the age at onset of abnormalities in knock-in mice expressing polyglutamine within an ectopic protein context. Jackson, W.S., Tallaksen-Greene, S.J., Albin, R.L., Detloff, P.J. Hum. Mol. Genet. (2003) [Pubmed]
  36. Regional and cellular expression of the dentatorubral-pallidoluysian atrophy gene in brains of normal and affected individuals. Nishiyama, K., Nakamura, K., Murayama, S., Yamada, M., Kanazawa, I. Ann. Neurol. (1997) [Pubmed]
  37. Preclinical Huntington's disease: compensatory brain responses during learning. Feigin, A., Ghilardi, M.F., Huang, C., Ma, Y., Carbon, M., Guttman, M., Paulsen, J.S., Ghez, C.P., Eidelberg, D. Ann. Neurol. (2006) [Pubmed]
  38. A high mobility group protein binds to long CAG repeat tracts and establishes their chromatin organization in Saccharomyces cerevisiae. Kim, H., Livingston, D.M. J. Biol. Chem. (2006) [Pubmed]
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